Discussions By Condition: I cannot get a diagnosis.

Need help please

Posted In: I cannot get a diagnosis. 7 Replies
  • Posted By: lexi11
  • June 8, 2009
  • 10:04 AM

Im running out of strength...

My daughter was born with multiple congenital defects including coarctation of the aorta, laryngotracheamalacia. malabsorbtion syndrome, development delays, glue ear, hypotonia, multiple allergies to food and environmental and many other things.
currently she is 3 years old and fed enterally, with no oral intake due to allergies, malabsorbition and aspiration. She has been dependant on TPN in the past which has resulted in a lot of blood clots.

Genetic testing has shown nothing. We live in central qld, australia and have no idea where we go to from here. My daughter is failure to thrive and short stature, as well as at least 1 year behind across the board developmentally, more for speech as she is yet to talk.

we are at the last of our teather, and really need help


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7 Replies:

  • please, this is getting more serious by the day. My daughter has had 4 allergic reactions in the last 2 weeks, some more serious than others. shes also lost 1.6kg, now 3 years old, 85cm and 11kg
    lexi11 3 Replies Flag this Response
  • Sorry to hear about your poor little girl suffering. :( All I can say is continue pushing with the Doctors, if one wont help move onto the next and keep going until someone can help. Don't take no for an answer, there has to be one good Doctor out there that can helpSamanthahttp://www.undiagnosedillness.org
    Anonymous 42789 Replies Flag this Response
  • Have they checked for DiGeorge syndrome?http://www.ncbi.nlm.nih.gov/disease/DGS.htmlhttp://en.wikipedia.org/wiki/22q11.2_deletion_syndromeLeigh's Syndrome?http://my.clevelandclinic.org/disorders/mitochondrial_cytopathies/hic_mitochondrial_cytopathies.aspxHere's a link for genetic disorders toohttp://www.chinese-medicine-directory.com/cgi-bin/index.cgi?/Health/Conditions_and_Diseases/Genetic_Disorders/
    Anonymous 42789 Replies Flag this Response
  • Have you had her checked for Celiac disease? It's possibly there is a syndrome that includes all of her symptoms. Check out http://rarediseases.info.nih.gov/GARD/I am hoping they may be able to assist you further.
    gr8tful 175 Replies Flag this Response
  • Lexi11Please email me at poodlesamy@live.com
    poodlesamy 26 Replies Flag this Response
  • Please telephone (61) 2-6288-7388
    poodlesamy 26 Replies Flag this Response
  • thankyou everyone for your replies. Alex isnt cealiac, that was tested. Blood and skin biopsies were recently sent to america (we're in aus) for mito testing i believe. i havent heard anything back so am asuming it was negative. shes had dna studies done, but im not sure to what extent. recently alex has contracted a gut bug from contaminated drinking water (thanks heaps council!!) and is really struggling with her weight. i've put her back on continuous feeds, and have a stool sample set to identify the exact bug so we can start treatment before it gets too bad. I cant afford for her to go back on tpn, not with her clots as risky as they are. arrgghhhh im hanging onto hope that someone, somewhere will see alex and say 'oh, she has xxx syndrome/disease'. ... we have to keep the hope...
    lexi11 3 Replies Flag this Response
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